Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.E347_H351delFs

c.1039_1051del13

Surrounding Variants

1 paper

NM_000179.3

p.E347_Q349delFs

c.1039_1046del8

3 papers

NM_000179.3

p.S346C

c.1037C>G

1 paper

NM_000179.3

p.E347_V352delFs

c.1039_1055del17

2 papers

NM_000179.3

p.E347insFs

c.1039_1040insC

1 paper

NM_000179.3

p.E347fs

c.1039_1040fs

1 paper

NM_000179.3

p.E347_S348insT

c.1039_1043ins3

1 paper

NM_000179.3

p.E347*

c.1039G>T

2 papers

NM_000179.3

p.N345K

c.1035T>A

2 papers

NM_000179.3

p.N345K

c.1035T>G

1 paper

NM_000179.3

p.S346_A350delFs

c.1036_1049del14

1 paper

NM_000179.3

p.N345insFs

c.1035dupT

1 paper

NM_000179.3

p.N345I

c.1034A>T